“Like a Small Boat On The Ocean, Sending Big Waves Into Motion” [1] by Sharon Burk

 

“Extract the RNA from our samples.” This seemingly small task could have a profound impact on the bigger picture. During this summer internship I had the opportunity to work with Dr. Kyle Fink and the other members of the Juvenile Huntington’s Disease team at the Nolta Lab in the Institute for Regenerative Cures. Huntington’s Disease (HD) is a neurodegenerative disease that is caused by a mutation in the Huntingtin gene. This disease is linked to a single cause that cannot be visible because it occurs at the molecular level and yet it leads to devastating consequences for the people and families affected by it.

Burk, Sharon IMG_4053 cropThe central dogma of biology states that DNA is transcribed into RNA which in turn is translated into a protein. These proteins are all different and serve different functions in the body such as making hair, or enzymes, or in the case of HD, making the mutant Huntingtin protein. All these proteins are derived from genes in our DNA. However, it is the expression of different genes that make a protein unique. While the exact function of the healthy Huntingtin protein is unknown, it is essential during development and serves many roles in the adult brain, such as assisting in the transportation of other proteins. In HD, there are additional nucleic acid triplicates, Cytosine Adenine and Guanine (or CAG) in the mutant Huntingtin gene that exceed what is normally found in healthy individuals. These CAG repeats encode for the amino acid, glutamine, and for this reason more glutamine amino acids are present in the mutant Huntingtin protein. This causes the proteins to mis-fold in a manner that inhibits its proper function. It is amazing to think that the fact that these proteins folded in an improper manner will cause someone to contract Huntington’s Disease. The folding of proteins devastates someone’s life and the people around them.

I was given the opportunity to work with an outstanding mentor and fellow team members. It is incomprehensible to think that what I am doing (something as small as extracting RNA) might help people with Huntington’s and their families. Researchers are collaborating to find a solution for this disease at the molecular level. Their work consists in identifying the mutant gene and turning it off using specialized proteins, so that those individuals who have received their life sentence might be able to live normal lives.Burk, Sharon IMG_4046 crop

Advancements in science have rapidly progressed over these past few decades and life-changing scientific developments are more likely to emerge in the years to come. In 1869, Friedrich Miescher identified a nucleotide. Almost a century later in 1950, Watson and Crick discovered DNA. In 1993 in Lake Maracaibo, researchers discovered the genetic cause for HD. The future seems so bright. Now, in the year 2016, we are developing ways to correct the genetic dysfunction of HD.  The goal of this scientific experiment is to restore hope and courage in those individuals affected who are struggling just because CAG repeats in their DNA

“Extract the RNA from our samples,” now that task doesn’t seem so small after all, but just might send “big waves into motion.”

[1] Platten, Rachel. “Fight Song.” Columbia Records, 2015.

 

Burk, Sharon IMG_4030 crop

 

Burk, Sharon IMG_4042 crop

 

Burk, Sharon IMG_4036 crop

 

Burk, Sharon IMG_4063 crop

 

Burk, Sharon IMG_4069 crop

 

Advertisements

One thought on ““Like a Small Boat On The Ocean, Sending Big Waves Into Motion” [1] by Sharon Burk

  1. This is so lovely to read, it is positive and gives all affected, great hope for the near future!
    Keep up the good work, research and findings and I will continue to fund raise for this dreadful disease.

    Like

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s